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Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia

Hedera, Peter; Xiao, Jianfeng; Puschmann, Andreas LU ; Momcilovic, Dragana; Wu, Steve W. and LeDoux, Mark S. (2012) In BMC Neurology 12(93).
Abstract
Background: Recently, heterozygous mutations in PRRT2 (Chr 16p11.2) have been identified in Han Chinese, Japanese and Caucasians with paroxysmal kinesigenic dyskinesia. In previous work, a paroxysmal kinesigenic dyskinesia locus was mapped to Chr 16p11.2 - q11.2 in a multiplex African-American family. Methods: Sanger sequencing was used to analyze all four PRRT2 exons for sequence variants in 13 probands (9 Caucasian, 1 Caucasian-Thai, 1 Vietnamese and 2 African-American) with some form of paroxysmal dyskinesia. Results: One patient of mixed Caucasian-Thai background and one African-American family harbored the previously described hotspot mutation in PRRT2 (c.649dupC, p.R217Pfs*8). Another African-American family was found to have a novel... (More)
Background: Recently, heterozygous mutations in PRRT2 (Chr 16p11.2) have been identified in Han Chinese, Japanese and Caucasians with paroxysmal kinesigenic dyskinesia. In previous work, a paroxysmal kinesigenic dyskinesia locus was mapped to Chr 16p11.2 - q11.2 in a multiplex African-American family. Methods: Sanger sequencing was used to analyze all four PRRT2 exons for sequence variants in 13 probands (9 Caucasian, 1 Caucasian-Thai, 1 Vietnamese and 2 African-American) with some form of paroxysmal dyskinesia. Results: One patient of mixed Caucasian-Thai background and one African-American family harbored the previously described hotspot mutation in PRRT2 (c.649dupC, p.R217Pfs*8). Another African-American family was found to have a novel mutation (c.776dupG, p.E260*). Both of these variants are likely to cause loss-of-function via nonsense-mediated decay of mutant PRRT2 transcripts. All affected individuals had classic paroxysmal kinesigenic dyskinesia phenotypes. Conclusions: Heterozygous PRRT2 gene mutations also cause paroxysmal kinesigenic dyskinesia in African-Americans. The c.649dupC hotspot mutation in PRRT2 is common across racial groups. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
PKD, PRRT2, African-American, ICCA, Hotspot mutation
in
BMC Neurology
volume
12
issue
93
publisher
BioMed Central
external identifiers
  • wos:000309394700001
  • scopus:84866279746
ISSN
1471-2377
DOI
10.1186/1471-2377-12-93
language
English
LU publication?
yes
id
2314d9f1-431e-442c-9128-47b70cdb866a (old id 3187971)
date added to LUP
2012-12-03 06:57:21
date last changed
2017-08-06 03:52:45
@article{2314d9f1-431e-442c-9128-47b70cdb866a,
  abstract     = {Background: Recently, heterozygous mutations in PRRT2 (Chr 16p11.2) have been identified in Han Chinese, Japanese and Caucasians with paroxysmal kinesigenic dyskinesia. In previous work, a paroxysmal kinesigenic dyskinesia locus was mapped to Chr 16p11.2 - q11.2 in a multiplex African-American family. Methods: Sanger sequencing was used to analyze all four PRRT2 exons for sequence variants in 13 probands (9 Caucasian, 1 Caucasian-Thai, 1 Vietnamese and 2 African-American) with some form of paroxysmal dyskinesia. Results: One patient of mixed Caucasian-Thai background and one African-American family harbored the previously described hotspot mutation in PRRT2 (c.649dupC, p.R217Pfs*8). Another African-American family was found to have a novel mutation (c.776dupG, p.E260*). Both of these variants are likely to cause loss-of-function via nonsense-mediated decay of mutant PRRT2 transcripts. All affected individuals had classic paroxysmal kinesigenic dyskinesia phenotypes. Conclusions: Heterozygous PRRT2 gene mutations also cause paroxysmal kinesigenic dyskinesia in African-Americans. The c.649dupC hotspot mutation in PRRT2 is common across racial groups.},
  author       = {Hedera, Peter and Xiao, Jianfeng and Puschmann, Andreas and Momcilovic, Dragana and Wu, Steve W. and LeDoux, Mark S.},
  issn         = {1471-2377},
  keyword      = {PKD,PRRT2,African-American,ICCA,Hotspot mutation},
  language     = {eng},
  number       = {93},
  publisher    = {BioMed Central},
  series       = {BMC Neurology},
  title        = {Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia},
  url          = {http://dx.doi.org/10.1186/1471-2377-12-93},
  volume       = {12},
  year         = {2012},
}